Glossary Term
Copy Number Polymorphism
Variation in the number of copies of a particular sequence within the genetic material of an individual. Large-scale copy number polymorphisms are common and widely distributed in the human genome.
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Glossary Term
Variation in the number of copies of a particular sequence within the genetic material of an individual. Large-scale copy number polymorphisms are common and widely distributed in the human genome.
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Preservation of cells, tissues, organs, or embryos by storage at low temperatures.
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A substance that is used to protect from the effects of freezing, largely by preventing large ice crystals from forming.
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Elimination, especially by blotting out, cutting out, or erasing.
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A nucleotide comprised of either a purine or pyrimidine nitrogenous base bound to a deoxyribose sugar esterified with three phosphate groups. These molecules are essential for DNA synthesis.
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A DNA sequencing technique in which a mixture of deoxynucleosidetriphosphates (dNTPs) and chain-terminating dNTPs, which are radioactively or fluorescently labeled, are combined within the reaction mixture. Once the reaction is complete, the DNA strands are separated by size, and the labeled chain terminating dNTPs can be read in sequence by the investigator or by a machine.
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A PCR format that partitions each sample into thousands of sub-reactions and calls each partition positive or negative, giving absolute quantification without a standard curve. Useful for low-level targets, copy-number work, and reference material characterization; throughput and per-test cost differ from qPCR.
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A type of polymerase chain reaction technique in which the sample is fractionated, within which individual PCR reactions occur in each fraction.
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Any liquid or solid material used to lessen the strength or flavor of a solution or mixture of another ingredient.
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To reduce in strength or concentration, especially by the addition of water.
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A long linear double-stranded polymer formed from nucleotides attached to a deoxyribose backbone and found in the nucleus of a cell; associated with the transmission of genetic information.
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Drug-, radiation-induced, or spontaneous injuries to DNA that introduce deviations from its normal double-helical conformation. These changes include structural distortions that interfere with replication and transcription, as well as point mutations that disrupt base pairs and exert damaging effects on future generations through changes in DNA sequence. If the damage is minor, it can often be repaired (DNA repair); extensive damage can induce apoptosis.